Prenatal diagnosis of Pallister–Killian syndrome in young woman: ultrasound indicators and confirmation by FISH

Abstract

We report the first case of Pallister-Killian syndrome diagnosed prenatally in Western Balkan region where one of the ultrasound markers was intrauterine growth restriction. During routine ultrasound control of the pregnancy at 21st gestation week (second pregnancy of the 25 year old woman) symmetrical intrauterine growth restriction (IUGR), short long bones, ventriculomegaly and oligoamnion were noted. Amniotic fluid was examined cytogenetically. Fetal karyotype obtained by GTG banding of amniocytes revealed mosaic female karyotype 46,XX/47,XX,+mar (F-like). C-banding indicated that F-like marker does not belong to F, E or G chromosomal group. Employing targeted FISH with arm-specific probe for chromosome 12, tetrasomy 12p was confirmed. Fetal lymphocytes revealed normal female karyotype. This case showed that i(12p) could be found in pregnancy of young woman, not only in those of advanced age, as usually reported in the literature. This case also showed that intrauterine growth restriction could be one of the ultrasound markers associated with Pallister-Killian syndrome.

Pallister‐Killian syndrome: Review of fetal phenotype

“…reported by Kolarski showed symmetrical IUGR, short long bones, ventriculomegaly and oligoamnios. 31 Amniocentesis revealed mosaic female karyotype 46,XX/47,XX,+mar (F-like). FISH was then performed to characterize the marker chromosome.…”

“…Post‐axial polydactyly was observed in a case of twin pregnancy reported by Kucińska‐Chahwan et al Post‐natally post‐axial polydactyly is commonly seen in children with PKS. The antenatal cases detecting polydactyly in PKS are less as this may not be picked in all cases (Figure A, B). Intrauterine growth restriction (IUGR) 25‐year‐old woman reported by Kolarski showed symmetrical IUGR, short long bones, ventriculomegaly and oligoamnios …”

Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis

“…To further characterize the fetal growth profile, a total of 15 cases, (five from our study population and 10 from the literature (Gilgenkrantz et al , Tejada et al , Chiesa et al , Ramírez et al , Liberati et al , Kolarski et al , Mourali et al , Chen et al , Aydin et al , Srinivasan and Wright ) with at least one available measurement for each fetal parameter) were included to create an estimate of PKS prenatal growth curves representing a total of 14 BP measurements, 15 HC measurements, 17 abdominal circumference (AC) measurements and 19 FL measurements at different gestational ages (Figure ). The majority of reported HC measurements (9/15) plotted above the 90th percentile, while almost all available FL observations (17/19) were under the 10th percentile (up to −6.6SD).…”

“…In a review of the literature, prenatal findings, including CDH, ventriculomegaly, congenital heart disease, polyhydramnios, and rhizomelic shortening have been described in over 80 probands with PKS. However, the majority have been reports of isolated cases (Gilgenkrantz et al ; Hunter et al; Steinbach and Rehder ; Shivashankar et al ; Soukup and Neidich ; Bresson et al ; McLeod et al ; Sharland et al ; Priest et al ; Tejada et al ; Blancato et al ; McLean et al ; Bernert et al ; Valerio et al ; Boyle et al ; Horn et al ; Los et al ; Brøndum‐Nielsen and Mikkelsen ;Takakuwa et al ; Chiesa et al ; Zollino et al ; Langford et al ; Paladini et al ; Choo et al ; Velagaleti et al ; Chiurazzi et al ; de Ravel et al ; Polityko et al ; O Bartsch et al ; Delahaye et al ; Gerdes et al ; Abad et al ; Ramírez et al ; Liberati et al ; Kim et al ; Kolarski et al ; Kunz et al ; Mourali et al ; Chaouachi et al ; Park et al ; Chen et al ; Sananes et al ; Murakami et al ; Johnstone and Jones ; Aydin et al ; Özlü et al ; Srinivasan and Wright ; Santamaria et al ; Xi et al ) or a small cohort of cases (Warburton et al ; Wilson et al ; Mowery‐Rushton ; Schubert et al ; Mathieu et al ; Doray et al ; Min‐Hyoung Kim et al ; de Athayde Costa et al ; Desseauve et al ; Libotte et al…”

Targeted prenatal diagnosis of Pallister-Killian syndrome

“…We reviewed published cases of prenatally diagnosed PKS in second and third trimesters of pregnancy limited to the last 10 years, and we searched through Online Mendelian Inheritance in Man (OMIM), Winter-Baraitser Dysmorphology Database (WBDD) and Phenomizer database to identify anomalies or markers present in PKS that could potentially be seen on prenatal ultrasound in second and third trimesters of pregnancy. [24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43] Analysis of collected data was presented. In case of descriptive, retrospective study, institutional ethics committee permission was not necessary; nevertheless, internal bioethics committee has approved study design.…”